Alport syndrome is a serious, rare, inherited genetic condition characterized by kidney disease, hearing loss,
and eye abnormalities. It occurs in 1 out of 50,000 newborns and it’s much more common in males than in
females. In some cases, there are no symptoms. In women who are carriers of the disease, the symptoms
are milder while in men they are much more severe.
Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage
kidney disease. The condition worsens to end-stage renal disease (ESRD) early on in the affected
person’s life, usually between adolescence and 40 years.
People with Alport syndrome also frequently develop hearing loss caused by problems with the inner ear
in late childhood or early adolescence.
Alport syndrome is diagnosed using a combination of clinical, family history, and biopsy criteria but genetic
testing is also used to confirm this diagnosis.
There is currently no known treatment for Alport syndrome and current therapies are only able to control
the rate of progression of the disease and lessen symptoms.